ID:TY3H_HUMAN DESCRIPTION: RecName: Full=Tyrosine 3-monooxygenase; EC=1.14.16.2; AltName: Full=Tyrosine 3-hydroxylase; Short=TH; FUNCTION: Plays an important role in the physiology of adrenergic neurons. CATALYTIC ACTIVITY: L-tyrosine + tetrahydrobiopterin + O(2) = L- dopa + 4a-hydroxytetrahydrobiopterin. COFACTOR: Fe(2+) ion. ENZYME REGULATION: Phosphorylation leads to an increase in the catalytic activity. PATHWAY: Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2. TISSUE SPECIFICITY: Mainly expressed in the brain and adrenal glands. DISEASE: Defects in TH are the cause of Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407]. A form of DOPA-responsive dystonia presenting in infancy or early childhood. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Some cases present with parkinsonian symptoms in infancy. Unlike all other forms of dystonia, it is an eminently treatable condition, due to a favorable response to L-DOPA. DISEASE: Note=May play a role in the pathogenesis of Parkinson disease (PD). A genome-wide copy number variation analysis has identified a 34 kilobase deletion over the TH gene in a PD patient but not in any controls. SIMILARITY: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TH"; WEB RESOURCE: Name=Wikipedia; Note=Tyrosine hydroxylase entry; URL="http://en.wikipedia.org/wiki/Tyrosine_hydroxylase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P07101
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004497 monooxygenase activity GO:0004511 tyrosine 3-monooxygenase activity GO:0005506 iron ion binding GO:0005515 protein binding GO:0008198 ferrous iron binding GO:0008199 ferric iron binding GO:0016491 oxidoreductase activity GO:0016597 amino acid binding GO:0016714 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0019825 oxygen binding GO:0019899 enzyme binding GO:0019904 protein domain specific binding GO:0034617 tetrahydrobiopterin binding GO:0035240 dopamine binding GO:0046872 metal ion binding
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
